Q8TCF1
Gene name |
ZFAND1 |
Protein name |
AN1-type zinc finger protein 1 |
Names |
Zinc finger AN1-type-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79752 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
5 structures for Q8TCF1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7Y39 | X-ray | 188 A | A/B | 133-268 | PDB |
| 7Y7L | NMR | - | A | 60-101 | PDB |
| 7YAB | NMR | - | A | 7-47 | PDB |
| 8HW9 | NMR | - | A | 133-268 | PDB |
| AF-Q8TCF1-F1 | Predicted | AlphaFoldDB |
235 variants for Q8TCF1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1395972835 CA371534147 |
2 | A>E | No |
ClinGen TOPMed |
|
|
rs1002965405 CA180403415 |
2 | A>T | No |
ClinGen Ensembl |
|
|
rs750664496 CA4793379 |
4 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1183550589 CA371534125 |
5 | D>A | No |
ClinGen gnomAD |
|
|
CA371534120 rs1459989363 |
6 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA371534122 rs1459989363 |
6 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753997183 CA4793376 |
6 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4793377 rs761903576 |
6 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA371534121 rs1459989363 |
6 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA180403401 rs569073548 |
7 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA180403400 rs569073548 |
7 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA180403379 rs540661193 |
8 | Q>* | No |
ClinGen Ensembl |
|
|
CA371534111 rs764209106 |
8 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4793375 rs764209106 |
8 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371534106 rs1356820680 |
9 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs199740115 CA180403375 |
9 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199740115 CA4793374 |
9 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1356820680 CA371534105 |
9 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA371534099 rs1243706132 |
10 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1331437178 CA371534094 |
10 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA371534098 rs1378394510 |
10 | C>Y | No |
ClinGen gnomAD |
|
|
CA371534093 rs1440913433 |
11 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA371534091 rs1440913433 |
11 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1325164042 CA371534086 CA371534087 |
11 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1352380697 CA371534089 |
11 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371534083 rs1407395301 |
12 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA180403362 rs916832382 |
13 | E>* | No |
ClinGen gnomAD |
|
|
CA4793372 rs759922306 |
13 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4793371 rs759922306 |
13 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1053961160 CA371534068 |
14 | H>Q | No |
ClinGen gnomAD |
|
|
CA371534061 rs1469728038 |
15 | C>F | No |
ClinGen gnomAD |
|
|
rs1469728038 CA371534063 |
15 | C>Y | No |
ClinGen gnomAD |
|
|
CA371534054 rs1451911661 |
16 | R>L | No |
ClinGen gnomAD |
|
|
rs1451911661 CA371534055 |
16 | R>P | No |
ClinGen gnomAD |
|
|
CA371534057 rs1224075274 |
16 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA180403331 rs961380649 |
17 | Q>R | No |
ClinGen TOPMed |
|
|
CA371534043 rs1355751085 |
18 | R>P | No |
ClinGen gnomAD |
|
|
CA4793350 rs766587383 |
19 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371534005 rs1248942074 |
22 | P>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 22 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4793347 rs547916334 |
24 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4793345 rs774826474 |
25 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA180401160 rs933380381 |
28 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs756996725 CA4793341 |
33 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460234420 CA371533908 |
35 | E>* | No |
ClinGen gnomAD |
|
|
CA180400575 rs576226354 |
40 | E>A | No |
ClinGen Ensembl |
|
|
rs1013270252 CA180400572 |
41 | S>F | No |
ClinGen gnomAD |
|
|
CA180400571 rs896177886 |
42 | H>R | No |
ClinGen Ensembl |
|
|
CA371533850 rs760273674 |
43 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775081454 CA4793321 |
43 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760273674 CA371533851 |
43 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4793322 rs760273674 |
43 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371533829 rs1246677298 |
46 | E>G | No |
ClinGen TOPMed |
|
|
CA371533809 rs1315055544 |
47 | V>A | No |
ClinGen TOPMed |
|
|
rs1396696779 CA371533813 |
47 | V>M | No |
ClinGen TOPMed |
|
|
rs752284980 CA4793303 COSM324393 |
48 | T>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA371533801 rs1338664407 |
49 | V>I | No |
ClinGen TOPMed |
|
|
CA4793302 rs767108997 |
50 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4793301 rs758944004 |
51 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774382874 CA371533773 |
53 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774382874 CA4793300 |
53 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4793299 rs771021584 |
54 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4793298 rs762932414 |
57 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4793297 rs773154137 |
59 | H>L | No |
ClinGen ExAC |
|
|
CA371533734 rs1429501411 |
59 | H>Y | No |
ClinGen gnomAD |
|
|
CA371533724 rs1255933060 |
60 | T>I | No |
ClinGen TOPMed |
|
|
CA371533719 rs1181970395 |
61 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 61 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4793294 rs150915150 |
62 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4793295 rs777025406 |
62 | Y>* | No |
ClinGen ExAC TOPMed |
|
|
rs781249002 CA4793293 |
63 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 63 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195859558 CA371533704 |
64 | C>R | No |
ClinGen gnomAD |
|
|
rs1448067710 CA371533701 |
64 | C>Y | No |
ClinGen gnomAD |
|
|
rs1203436643 CA371533692 |
65 | S>C | No |
ClinGen gnomAD |
|
|
rs780063271 CA4793290 |
68 | D>E | No |
ClinGen ExAC |
|
|
rs758924374 CA4793289 |
69 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371533609 rs1585927821 |
77 | V>G | No |
ClinGen Ensembl |
|
|
rs1271713312 CA371533606 |
78 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4793287 rs779313466 |
78 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371533591 rs1325749825 |
80 | P>L | No |
ClinGen gnomAD |
|
|
rs771411265 CA4793286 |
81 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1563608927 CA371533575 |
82 | C>F | No |
ClinGen Ensembl |
|
|
rs113513050 CA180398658 |
84 | K>N | No |
ClinGen Ensembl |
|
|
rs752440955 CA4793283 |
89 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4793258 rs750426099 |
91 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750426099 CA180398425 |
91 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369579868 COSM1233325 CA4793257 |
91 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4793256 rs761762160 |
94 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4793255 rs776306945 |
95 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350793468 CA371533473 |
95 | D>E | No |
ClinGen TOPMed |
|
|
rs201698980 CA4793253 |
96 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4793254 rs556681617 |
96 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1374909361 CA371533462 |
97 | E>A | No |
ClinGen gnomAD |
|
|
rs1286154330 CA371533459 |
97 | E>D | No |
ClinGen TOPMed |
|
|
rs867212844 CA180398342 |
98 | C>F | No |
ClinGen Ensembl |
|
|
rs376587300 CA4793252 |
98 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1585927578 CA371533451 |
99 | E>K | No |
ClinGen Ensembl |
|
|
rs1441036249 CA371533446 |
99 | E>V | No |
ClinGen gnomAD |
|
|
rs1218998489 CA371533430 |
102 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 103 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371533418 rs1585927573 |
103 | I>T | No |
ClinGen Ensembl |
|
|
CA4793251 rs141128196 |
104 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371533413 rs1585927559 |
104 | P>Q | No |
ClinGen Ensembl |
|
|
rs774371842 CA371533398 |
106 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4793249 rs774371842 |
106 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA371533396 rs1366687469 |
107 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs749744177 CA4793247 |
107 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749744177 CA4793248 |
107 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752321029 CA4793246 |
108 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010851890 CA180398289 |
109 | A>D | No |
ClinGen Ensembl |
|
|
rs756496086 CA4793245 |
109 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756496086 CA371533386 |
109 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA180398284 rs199757100 |
110 | A>T | No |
ClinGen 1000Genomes |
|
|
rs958186976 CA180398277 |
110 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746708206 CA4793244 |
111 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA180398265 rs1030837382 |
114 | L>P | No |
ClinGen Ensembl |
|
|
rs758085504 CA4793242 |
116 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371533340 rs1268035818 |
116 | K>N | No |
ClinGen gnomAD |
|
|
CA4793240 rs764748593 |
118 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4793238 rs148193701 |
119 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4793216 rs752508716 |
120 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371532817 rs1338871649 |
122 | K>Q | No |
ClinGen gnomAD |
|
|
CA371532802 rs1259290855 |
123 | T>A | No |
ClinGen TOPMed |
|
|
CA180397481 rs1056953600 |
128 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
COSM79110 rs1173671877 CA371532707 |
130 | R>* | lung ovary Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system bone prostate [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs755966325 CA4793215 |
130 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371532673 rs1585926972 |
132 | K>R | No |
ClinGen Ensembl |
|
|
CA4793214 rs368521069 |
135 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 136 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4793213 rs143062919 |
136 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4793212 rs766427243 |
141 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4793210 rs375283141 |
142 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4793211 rs375283141 |
142 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4793209 rs770358468 |
143 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA180397449 rs770358468 |
143 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4793208 rs762353809 |
144 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140919879 CA4793206 |
145 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140919879 CA371532535 |
145 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4793204 rs190044688 |
146 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371532509 rs1463500686 |
148 | L>* | No |
ClinGen TOPMed |
|
|
CA4793203 rs770384440 |
148 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4793202 rs748856975 |
150 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA180397407 rs895250219 |
150 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs777095243 CA4793201 |
152 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1301352505 CA371532437 |
153 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs756055874 CA371532438 |
153 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4793200 rs756055874 |
153 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA180397347 rs776595873 |
155 | D>A | No |
ClinGen Ensembl |
|
|
rs751777651 CA4793196 |
155 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4793198 rs754752869 |
155 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4793197 rs754752869 |
155 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371532363 rs1296790284 |
159 | P>L | No |
ClinGen TOPMed |
|
|
rs1245355949 CA371530474 |
161 | T>K | No |
ClinGen TOPMed |
|
|
CA371530466 rs1362823295 |
162 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1021640217 CA180387933 |
163 | R>G | No |
ClinGen Ensembl |
|
|
rs1340137396 CA371530444 |
163 | R>I | No |
ClinGen TOPMed |
|
|
CA4793177 rs746843624 |
164 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs990533330 CA180387925 |
165 | Y>C | No |
ClinGen Ensembl |
|
|
rs1471784412 CA371530383 |
167 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs137955635 CA4793176 |
168 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371530333 rs1200668785 |
170 | L>F | No |
ClinGen gnomAD |
|
|
CA371530329 rs1451511515 |
171 | P>A | No |
ClinGen gnomAD |
|
|
rs1206929582 CA371530315 |
172 | K>E | No |
ClinGen gnomAD |
|
|
CA4793174 rs750608559 |
172 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1267679797 CA371530303 |
173 | G>R | No |
ClinGen gnomAD |
|
|
CA4793172 rs371896769 |
174 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4793171 rs754440865 |
174 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA371530278 rs1255826383 |
174 | S>R | No |
ClinGen TOPMed |
|
|
CA4793170 rs764724487 |
176 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA371530218 rs1329247335 |
178 | S>N | No |
ClinGen gnomAD |
|
|
rs761034839 CA4793169 |
180 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 182 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4793168 rs775933950 |
184 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4793167 rs367992038 |
186 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4793166 rs201157500 |
186 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA180387839 rs961612968 |
187 | W>R | No |
ClinGen TOPMed |
|
|
rs772836022 CA4793165 |
188 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776070552 CA4793162 |
189 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs776070552 CA4793163 |
189 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1376378259 CA371530043 |
190 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1376378259 CA371530039 |
190 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA371530016 rs1300731550 |
192 | A>P | No |
ClinGen TOPMed |
|
|
rs768595171 CA180387803 |
193 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs369992651 CA4793160 |
193 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4793161 rs768595171 |
193 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA180387785 rs267602017 |
194 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267602017 CA4793159 |
194 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs185603427 CA4793156 |
197 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs185603427 CA4793155 |
197 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4793153 rs145615792 |
200 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4793154 rs145615792 |
200 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1271804809 CA371529912 |
200 | A>V | No |
ClinGen gnomAD |
|
|
rs756646115 CA4793152 |
201 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371529822 rs1364440555 |
207 | N>D | No |
ClinGen gnomAD |
|
|
rs200491535 CA4793151 |
210 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371529748 rs200491535 |
210 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1449338044 CA371529722 |
211 | A>V | No |
ClinGen TOPMed |
|
|
rs759796332 CA4793149 |
212 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA371529220 CA4793115 rs770843358 |
215 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1482573493 CA371529212 |
216 | L>M | No |
ClinGen Ensembl |
|
|
rs759317764 CA180387486 |
217 | C>G | No |
ClinGen Ensembl |
|
|
rs377085653 CA4793112 |
220 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4793111 rs769955968 |
221 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs781275964 CA4793109 |
222 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA371529068 rs1476093224 |
224 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA371529059 rs1360159084 |
224 | A>V | No |
ClinGen gnomAD |
|
|
rs776588533 CA180387448 |
226 | P>T | No |
ClinGen Ensembl |
|
|
rs576125001 CA180387419 |
228 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4793107 rs747512116 |
230 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350256546 CA371528951 |
230 | T>S | No |
ClinGen gnomAD |
|
|
CA371528932 rs1407278741 |
231 | L>S | No |
ClinGen gnomAD |
|
|
rs1386110362 CA371528900 |
233 | T>A | No |
ClinGen TOPMed |
|
|
rs1403701304 CA371528885 |
234 | W>R | No |
ClinGen gnomAD |
|
|
CA4793105 rs758742596 |
236 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1456560237 CA371528831 |
237 | K>E | No |
ClinGen TOPMed |
|
|
CA4793104 rs527774502 |
238 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371528768 rs1472110070 |
241 | P>T | No |
ClinGen gnomAD |
|
|
CA4793102 rs149747946 |
243 | Y>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1488748692 CA371528705 |
245 | G>D | No |
ClinGen gnomAD |
|
|
CA371528678 rs1218678509 |
247 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA371528619 rs1389203639 |
251 | E>G | No |
ClinGen gnomAD |
|
|
rs1448253637 CA371528599 |
252 | Y>* | No |
ClinGen gnomAD |
|
|
rs752166418 CA4793100 |
254 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1028787559 CA180387357 |
257 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 258 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371528503 rs1225792544 |
259 | F>I | No |
ClinGen gnomAD |
|
|
CA371528485 rs1368863042 |
260 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1368863042 CA371528489 |
260 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4793097 rs774419977 |
262 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA371528445 rs1347054485 COSM1289038 |
263 | V>I | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA371528420 rs1328904947 |
264 | E>D | No |
ClinGen TOPMed |
|
|
CA371528433 rs1321370556 |
264 | E>K | No |
ClinGen gnomAD |
|
|
rs1167605143 CA371528372 |
268 | E>Q | No |
ClinGen gnomAD |
No associated diseases with Q8TCF1
2 regional properties for Q8TCF1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, AN1-type | 4 - 52 | IPR000058-1 |
| domain | Zinc finger, AN1-type | 58 - 106 | IPR000058-2 |
Functions
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic stress granule | A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| proteasome binding | Binding to a proteasome, a large multisubunit protein complex that catalyzes protein degradation. |
| zinc ion binding | Binding to a zinc ion (Zn). |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to arsenite ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an arsenite ion stimulus. |
| positive regulation of intracellular protein transport | Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells. |
| stress granule disassembly | The disaggregation of a stress granule into its constituent protein and RNA parts. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8BFR6 | Zfand1 | AN1-type zinc finger protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAELDIGQHC | QVEHCRQRDF | LPFVCDDCSG | IFCLEHRSRE | SHGCPEVTVI | NERLKTDQHT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SYPCSFKDCA | ERELVAVICP | YCEKNFCLRH | RHQSDHECEK | LEIPKPRMAA | TQKLVKDIID |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SKTGETASKR | WKGAKNSETA | AKVALMKLKM | HADGDKSLPQ | TERIYFQVFL | PKGSKEKSKP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MFFCHRWSIG | KAIDFAASLA | RLKNDNNKFT | AKKLRLCHIT | SGEALPLDHT | LETWIAKEDC |
| 250 | 260 | ||||
| PLYNGGNIIL | EYLNDEEQFC | KNVESYLE |